The NHS in England is to screen 100,000 newborn babies for more than 200 genetic conditions in a world-first scheme aimed at boosting early diagnosis and treatment.
All new parents are currently offered a blood spot test for their babies, usually when the child is five days old, to check if they have any of nine rare but serious conditions. The newborn’s heel is pricked to collect a few drops of blood on a card that is sent away to be tested.
Now, as part of a large-scale research study, 100,000 newborns will be offered much more advanced whole-genome sequencing tests through blood samples typically taken from the umbilical cord shortly after birth.
“Diagnosing rare conditions in newborn babies at the earliest opportunity through genomic testing can be truly life-changing for families,” says Amanda Pritchard, chief executive of NHS England.
“This has the potential to give thousands of children the chance to access the right treatment at the right time, to give them the best possible start to life, and for families to better plan for their care.”
The scheme, which is being led by Genomics England in partnership with NHS England, will screen babies for more than 200 rare conditions. These include metachromatic leukodystrophy (MLD), which causes a progressive loss of physical and mental skills.
Blood samples from more than 500 newborns have already been collected from 13 NHS hospitals, with plans to offer the test to 100,000 babies in 40 hospitals in England.
By detecting rare genetic conditions sooner, hundreds of children could benefit from earlier diagnosis and treatment that could help slow the progression of the disease or extend their lives. Currently, many of these conditions can be difficult to diagnose, leading to delays in care.
Pritchard said: “If we can diagnose and treat children years earlier for rare genetic conditions, we have the power to help stop debilitating conditions in their tracks and enable more children to grow up, start school and to live independently. It will be transformative for patients and for the future of medicine.”
Whole genome sequencing provides a readout of a person’s entire genetic code and checks for changes associated with specific health conditions. The scheme, called the Generation Study, will look at more than 200 conditions in babies who appear healthy but whose symptoms may not appear until later in life.
As part of the recruitment for the study, pregnant women and their partners are informed of the research during routine examinations and invited to participate.
If they choose, an NHS doctor, nurse or midwife confirms at the time of birth that they are happy to proceed and then a blood sample is taken and sent to a laboratory for sequencing.
One of the first babies to be tested for the multiple rare conditions was Joshua Charnock – born at St Michael’s Hospital in Bristol – after his parents, Gemma Charnock and Jimmy Cliftlands, joined the study.
Gemma Charnock (39), who is waiting for the results, said: “We felt the study could be beneficial for Joshua if it did find something and enable him to get early treatment – as well as hopefully helping other children. It was also non-invasive, so we didn’t have any concerns about the impact on him.”
Parents get the results of the test within 28 days if a condition is suspected, or within a few months if no problems are picked up.
If a newborn baby is identified as having a treatable childhood condition, their families and carers will be offered further NHS tests to confirm the diagnosis, plus ongoing support and treatment.
Dr Rich Scott, chief executive of Genomics England, said: “Children with these conditions often go years without receiving a diagnosis. Reducing this time would mean earlier access to what can be life-changing treatment.”
He added that the research will help determine whether genomic newborn screening should be offered to all children in the future.
Researchers also hope the study will help them learn more about the link between genes and health, which could lead to new treatments. Storing genetic information from birth can also help people who are later diagnosed with diseases.
Wes Streeting, the health secretary, said the future of healthcare must be “more predictive, more preventive and more personalised” to help repair the “broken” NHS. “These kinds of advances in genomics will help us achieve exactly that,” he added.
